Results 101 to 110 of about 5,354 (221)

Genetic diseases of renal phosphate handling [PDF]

, 2017
UNLABELLED: Renal control of systemic phosphate homeostasis is critical as evident from inborn and acquired diseases causing renal phosphate wasting. At least three transport proteins are responsible for renal phosphate reabsorption: NAPI-IIa (SLC34A1 ...
Biber, Jürg, Hernando, Nati, Rubio-Aliaga, Isabel, Wagner, Carsten A.   +3 more
core   +3 more sources

X-linked hypophosphatemia due to a de novo novel splice-site variant in a 7-year-old girl with scaphocephaly, Chiari syndrome type I and syringomyelia

Bone Reports
X-linked hypophosphatemia (XLH) is a rare X-linked dominant inherited disorder caused by loss-of-function variants in the PHEX gene and characterized by renal phosphate wasting, hypophosphatemia, abnormal vitamin D metabolism, growth retardation and ...
Maria Fourikou, Aristea Karipiadou, Athina Ververi, Parthena Savvidou, Nikolaos Laliotis, Vassilios Tsitouras, Stella Stabouli, Emmanuel Roilides, Konstantinos Kollios   +8 more
doaj   +1 more source

The role of the cortical cytoskeleton [PDF]

, 1996
We generated Dictyostelium double mutants lacking the two F-actin crosslinking proteins alpha-actinin and gelation factor by inactivating the corresponding genes via homologous recombination.
Albrecht, Richard, Bozzaro, Salvatore, Köppel, Bernd, Noegel, Angelika A., Peracino, Barbara, Rivero, Francisco, Schleicher, Michael, Siegert, Florian, Weijer, Cornelis J.   +8 more
core   +1 more source

The Aging Landscape by scRNAseq of Mesenchymal Lineage Cells in Mouse Bone

Aging Cell, Volume 24, Issue 12, December 2025.
scRNA‐seq analysis reveals age‐related changes in bone mesenchymal cells in male and female mice. Moreover, the comparison of aging and autophagy deficiency in bone mesenchymal cells shows overlap and suggests that age‐related decline in autophagy contributes to skeletal aging.
Melda Onal, Intawat Nookaew, Ana Resende‐Coelho, Olivia Reyes‐Castro, Adriana Marques‐Carvalho, Landon Gatrell, Alongkorn Kurilung, Alicen James, Aaron Warren, Ha‐Neui Kim, Jinhu Xiong, Charles A. O'Brien, Maria Almeida   +12 more
wiley   +1 more source

Phosphate in Physiological and Pathological Mineralization: Important yet Often Unheeded

MedComm, Volume 6, Issue 7, July 2025.
Phosphate serves as a building block for physiological mineralization, and as a signaling molecule that regulates the activity of mineralizing cells. The disturbance in these processes could induce a series of pathological mineralization, with abnormal mineralization of hard tissues and ectopic mineralization of soft tissues being the most ...
Wen Qin, San‐yang Yu, Jia‐lu Gao, Jian‐fei Yan, Qian‐qian Wan, Shuai‐lin Jia, Franklin Tay, Kai Jiao, Lina Niu   +8 more
wiley   +1 more source

The role of FGF23/Klotho in mineral metabolism and chronic kidney disease [PDF]

, 2013
Chronic kidney disease (CKD) is a global health burden of growing incidence and prevalence. As renal function declines disturbances in mineral metabolism, such as hyperphosphatemia and secondary hyperparathyroidism, inevitably develop. These metabolic
Olauson, Hannes
core   +1 more source

Irisin Prevents the Effects of Simulated Microgravity on Bone and Muscle Differentiation Markers

FASEB BioAdvances, Volume 7, Issue 7, July 2025.
In the RPM condition, irisin treatment reduces the expression of key genes involved in the myogenesis process and increases those of osteocyte differentiation. ABSTRACT Microgravity exposure affects both tissues and cells, and, in this regard, one of the most affected targets is the skeletal muscle system due to the significant loss of bone and muscle ...
Lorenzo Sanesi, Roberta Zerlotin, Alessio Campiolo, Angela Oranger, Manuela Dicarlo, Clelia Suriano, Ameneh Ghadiri, Graziana Colaianni, Maria Grano, Sara Tavella, Silvia Colucci   +10 more
wiley   +1 more source

Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population

Orphanet Journal of Rare Diseases, 2021
Background X-linked hypophosphatemia (XLH) is a hereditary rare disease caused by loss-of-function mutations in PHEX gene leading tohypophosphatemia and high renal loss of phosphate.
Enrique Rodríguez-Rubio, Helena Gil-Peña, Sara Chocron, Leire Madariaga, Francisco de la Cerda-Ojeda, Marta Fernández-Fernández, Carmen de Lucas-Collantes, Marta Gil, María Isabel Luis-Yanes, Inés Vergara, Juan David González-Rodríguez, Susana Ferrando, Montserrat Antón-Gamero, Marta Carrasco Hidalgo-Barquero, Angustias Fernández-Escribano, Mº Ángeles Fernández-Maseda, Laura Espinosa, Aniana Oliet, Antonio Vicente, Gema Ariceta, Fernando Santos, RenalTubeGroup   +21 more
doaj   +1 more source

Identification of receptor-type protein tyrosine phosphatase μ as a new marker for osteocytes [PDF]

, 2015
Osteocytes are the predominant cells in bone, where they form a cellular network and display important functions in bone homeostasis, phosphate metabolism and mechanical transduction.
Bezemer, M. (Martineke), Chan, A.B. (Alan. B.), Deckers, M.M.L. (Martine), Kaijzel, E.L. (Eric), Löwik, C.W.G.M. (Clemens), Que, I. (Ivo), Rooij, K. (Karien) de, Velde, M. (Martijn) van der, Waarsing, J.H. (Jan), Wilt, E. (Edwin) de   +9 more
core   +5 more sources

X‐Linked Hypophosphataemia and Burosumab: A Systemic Disease With a New Treatment

Journal of Paediatrics and Child Health, Volume 61, Issue 5, Page 685-700, May 2025.
ABSTRACT X linked hypophosphataemia (XLH) is a systemic, chronic condition that significantly impairs quality of life. In XLH, a phosphate regulating endopeptidase homologue X‐linked (PHEX) gene mutation leads to excess fibroblast growth factor 23 (FGF23), causing hypophosphataemia and subsequent rickets, lower limb deformity, pain and other sequelae ...
Jessica L. Sandy, Andrew Biggin, Aris Siafarikas, Peter J. Simm, Christine P. Rodda, Craig F. Munns   +5 more
wiley   +1 more source